Project Objectives:– To generate a methodological framework to measure the socio-economic burden of RD

– To define a methodological framework to measure the HRQOL of RD

– To develop unified instruments to gather information on the socio-economic burden and HRQOL of RD throughout Europe

– To perform a pilot study measuring the socio-economic burden and HRQOL for selected RD

– To refine and package the tools developed for continued and more extensive costs and HRQOL studies of RD

Project Outcomes:An integrated and harmonized set of instruments to assess and monitor socio-economic burden and HRQOL of patients affected by RD and their caregivers.
1. A detailed analysis of the services (health and social care) received by people with specific RD in different EU countries, including the identification of formal and informal care.
2. A report on the current socioeconomic and HRQOL status of RD patients and caregivers for the selected RD and EU countries.
3. The results and deliverables that emerge from this project will stimulate the future comparability and monitoring of RD in Europe as well as anticipate future information needs.

Background:
Because of their characteristics, rare diseases require the combined efforts of health and social care professionals, politicians, managers and researchers to increase the availability of effective disease management tools to improve care and to extend both life expectancy and Health Related Quality of Life (HRQOL). Given the nature and the goals of the BURQOL-RD project, it is clear that a fundamental beneficiary of the results of this project will be the families and caregivers of those affected by RD, a group that is often overlooked when considering such devastating diseases.

Preliminary Results from Bulgaria
The results from Bulgaria have pointed out the difficult access to specialised medical and social care for patients with rare diseases in the country. The average socio-economic burden per patient is significant – from 4 520.99 (BGN, 2011) in Prader-Willi syndrome up to 42 582.16 in Cystic Fibrosis. Short results can be found here. Full analysis of BURQOL-RD data per country and per disease would be published in a special issue of the European Journal of Health Economics. BURQOL-RD coordinators and ICRDOD wish to express gratitude to the Bulgarian patient organisations and medical professionals who have contributed to conduct the survey in Bulgaria.